Canonical Allele Identifier: CA443101543
Gene: NSUN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.6611181C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.6611068C>A , CM000667.2:g.6611068C>A GRCh38
NC_000005.9:g.6611181C>A , CM000667.1:g.6611181C>A GRCh37
NC_000005.8:g.6664181C>A NCBI36
NG_028215.1:g.27293G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264670.11:c.1113G>T MANE Select ENSP00000264670.6:p.Gly371=
ENST00000264670.10:c.1113G>T ENSP00000264670.6:p.Gly371=
ENST00000504374.5:c.*419G>T ENSP00000421783.1:n.*419G>T
ENST00000505892.5:n.1682G>T
ENST00000506139.5:c.1008G>T ENSP00000420957.1:p.Gly336=
NM_001193455.1:c.1008G>T NP_001180384.1:p.Gly336=
NM_017755.5:c.1113G>T NP_060225.4:p.Gly371=
NR_037947.1:n.1409G>T
NM_017755.6:c.1113G>T MANE Select NP_060225.4:p.Gly371=
NM_001193455.2:c.1008G>T NP_001180384.1:p.Gly336=
NR_037947.2:n.1093G>T